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NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 30, 2020)
Last evaluated:
Jul 2, 2020
Accession:
VCV000256892.4
Variation ID:
256892
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)

Allele ID
255534
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2094179 (GRCh38) GRCh38 UCSC
16: 2144180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2094179G>C
NC_000016.9:g.2144180G>C
NM_001009944.3:c.10531C>G MANE Select NP_001009944.3:p.Leu3511Val missense
... more HGVS
Protein change
L3511V, L3510V
Other names
-
Canonical SPDI
NC_000016.10:2094178:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00092
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
The Genome Aggregation Database (gnomAD), exomes 0.00128
Exome Aggregation Consortium (ExAC) 0.00247
Trans-Omics for Precision Medicine (TOPMed) 0.00062
Links
ClinGen: CA7829529
UniProtKB: P98161#VAR_010092
dbSNP: rs141946034
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 2, 2020 RCV000252033.4
Likely benign 1 no assertion criteria provided - RCV001291845.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1717 2045
LOC105371049 - - - GRCh38 - 225

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305667.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 02, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475255.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (3)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Polycystic Kidney disease
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592846.3
Submitted: (Nov 08, 2020)
Evidence details
Comment:
The PKD1 p.Leu3511Val variant was identified in 1 of 460 proband chromosomes (frequency: 0.002) from individuals or families with ADPKD in a validation study analyzing … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Modifier genes play a significant role in the phenotypic expression of PKD1. Fain PR Kidney international 2005 PMID: 15780078
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Rossetti S American journal of human genetics 2001 PMID: 11115377
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Peral B American journal of human genetics 1997 PMID: 9199561

Text-mined citations for rs141946034...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 23, 2021